Linked Data
ClinVar Variation Id:
370030
ClinVar RCV Id:
RCV000408904
dbSNP Id:
rs1057515577
PubMed:
PMID:21031565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129553302A>G , CM000685.2:g.129553302A>G | GRCh38 |
| NC_000023.10:g.128687279A>G , CM000685.1:g.128687279A>G | GRCh37 |
| NC_000023.9:g.128514960A>G | NCBI36 |
| NG_008638.1:g.18028A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689093.1:c.171A>G | ||
| ENST00000691455.1:c.*531-4023A>G | ENSP00000510265.1:n.*531-4023A>G | |
| ENST00000693473.1:c.233+29A>G | ||
| ENST00000371113.9:c.239-4023A>G MANE Select | ENSP00000360154.4:n.239-4023A>G | |
| ENST00000646010.1:c.233+29A>G | ||
| ENST00000357121.5:c.239-4023A>G | ENSP00000349635.5:n.239-4023A>G | |
| ENST00000371113.8:c.239-4023A>G | ENSP00000360154.4:n.239-4023A>G | |
| ENST00000486673.1:n.480+3385A>G | ||
| NM_000276.3:c.239-4023A>G | NP_000267.2:n.239-4023A>G | |
| NM_001587.3:c.239-4023A>G | NP_001578.2:n.239-4023A>G | |
| XM_005262422.1:c.-233-4023A>G | XP_005262479.1:n.-233-4023A>G | |
| XM_011531342.1:c.242-4023A>G | XP_011529644.1:n.242-4023A>G | |
| XM_011531343.1:c.242-4023A>G | XP_011529645.1:n.242-4023A>G | |
| XM_011531344.1:c.39+1A>G | XP_011529646.1:n.39+1A>G | |
| XM_011531345.1:c.39+1A>G | XP_011529647.1:n.39+1A>G | |
| XM_011531346.1:c.242-4023A>G | XP_011529648.1:n.242-4023A>G | |
| NM_001318784.1:c.242-4023A>G | NP_001305713.1:n.242-4023A>G | |
| XM_005262422.2:c.-233-4023A>G | XP_005262479.1:n.-233-4023A>G | |
| XM_011531344.3:c.39+1A>G | XP_011529646.1:n.39+1A>G | |
| XM_011531345.3:c.39+1A>G | XP_011529647.1:n.39+1A>G | |
| XM_017029554.1:c.239-4023A>G | XP_016885043.1:n.239-4023A>G | |
| NM_000276.4:c.239-4023A>G MANE Select | NP_000267.2:n.239-4023A>G | |
| NM_001318784.2:c.242-4023A>G | NP_001305713.1:n.242-4023A>G | |
| NM_001587.4:c.239-4023A>G | NP_001578.2:n.239-4023A>G |